| 61. |
- Hackman, P, et al.
(författare)
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Welander distal myopathy: The evasive gene
- 2008
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Ingår i: NEUROMUSCULAR DISORDERS. - : Elsevier BV. - 0960-8966. ; 18:9-10, s. 767-767
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 62. |
- Hammarén, Elisabet, et al.
(författare)
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Factors of importance for dynamic balance impairment and frequency of falls in individuals with myotonic dystrophy type 1 - A cross-sectional study - Including reference values of Timed Up & Go, 10m walk and step test
- 2014
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Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 24:3, s. 207-215
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Tidskriftsartikel (refereegranskat)abstract
- Patients with myotonic dystrophy type 1 suffer from gait difficulties including stumbles and falls. To identify factors of importance for balance impairment and fall-risk a mapping of functional balance was performed, in a cross-sectional study of 51 adults. Walking, balance, falls and muscle force were self-assessed and measured. Reference values of balance were established through measurements of 220 healthy subjects. Falls were more frequently observed in the patients who were more severely affected of muscle weakness than in mildly affected patients, p= 0.014. The number of falls showed negative correlation with balance confidence ( rs= -0.516, p<. 0.001). The ankle dorsiflexor force together with the time difference between comfortable and maximum speed in 10. m-walk proved to be significant factors for fall frequency. A ten Newton muscle force decrease showed 15% increase in odds ratio for frequent falls. One-second increase in time difference between comfortable and maximum walking speed showed 42% increase in odds ratio for frequent falls. In conclusion, assessing the ankle muscle force and the time difference in different walking speeds is important to detect risk of falling. The activities-specific balance confidence score reflects the consequences of the muscle force decrease. Certain patient strategies to diminish risk of falling could be due. © 2013 Elsevier B.V.
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| 63. |
- Hammarén, Elisabet, et al.
(författare)
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Muscle force, balance and falls in muscular impaired individuals with myotonic dystrophy type 1: A five-year prospective cohort study
- 2015
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Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 25:2, s. 141-148
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Tidskriftsartikel (refereegranskat)abstract
- Individuals with myotonic dystrophy type 1 (DM1) have progressive muscle weakness with gait and balance impairments. We explored prospectively the natural history of muscle force, gait, balance, balance confidence and walking ability in muscular affected individuals with DM1. After five years data from 43 individuals (m/f:18/25) were analysed. All measures of balance showed statistically significant deterioration (p < 0.001) with averaged yearly loss of function by 3–4%. In the group as a whole, loss of muscle force was statistically significant in all lower limb muscles measured after five years: changes relative to baseline force were median −6% to −18%. For males muscle force loss was statistically significant in all leg muscles, but only in hip flexors for women. After five years 100% of the men had fallen during the previous year and 67% three times or more, in contrast only 60% of the women had fallen in the previous year and 36% three times or more. The proportion of individuals seeking medical care the previous year, after falling, was more than doubled after five years, albeit the number of falls had not changed.Awareness of this increased risk of falls is important for caregivers and patients.
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| 64. |
- Hammarén, Elisabet, et al.
(författare)
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Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist.
- 2005
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Ingår i: Neuromuscular disorders : NMD. - : Elsevier BV. - 0960-8966. ; 15:9-10, s. 610-7
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Tidskriftsartikel (refereegranskat)abstract
- We investigated test-retest reliability and responsiveness in two functional measuring instruments, Timed Up&Go (TUG) and Timed-Stands Test (TST), and in three self-assessment scales, Visual Analogue Scale (VAS), Borg's Category-Ratio Scale (BorgCR10) and Myotonia Behaviour Scale (MBS) when quantifying myotonic stiffness and mobility impairment. These methods were used in the assessment of treatment efficacy of mexiletine. Six male patients with myotonia congenita followed a standardised protocol with time scoring and rest on two occasions, with and without mexiletine. Time scoring of TUG and TST and self-assessments of stiffness were performed. A 14-day stiffness diary was used at home. Timed Up&Go and TST showed very good test-retest agreement (ICC=0.87-0.95) and significant to change (P=0.005 and 0.001, respectively). All self-assessment scales revealed excellent responsiveness and good test-retest reliability. The measurement instruments possess great capacity to detect functional impairment in the myotonia congenita patient group, and sensibility to identify true changes due to treatment. When considering the results, three instruments are favoured; Timed Up&Go and BorgCR10 for short, and MBS for long-term evaluations.
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| 65. |
- Hedberg, B, et al.
(författare)
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A sarcoplasmic body myopathy
- 2006
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Ingår i: NEUROMUSCULAR DISORDERS. - : Elsevier BV. - 0960-8966. ; 16:9-10, s. 690-690
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 66. |
- Hedberg, C., et al.
(författare)
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Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
- 2012
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Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 22:9-10, s. 873-873
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Hereditary myopathy with early respiratory failure (HMERF) and extensive myofibrillar lesions have been described in sporadic and familial cases and linked to various chromosomal regions. We describe the clinical manifestations, muscle histopathology and genetics in eight individuals from three apparently unrelated families with clinical and pathological features of HMERF. All patients had muscle weakness in the pelvic girdle, neck flexors, respiratory and trunk muscles, and the majority had prominent calf hypertrophy. Examination of pulmonary function showed decreased vital capacity. No signs of cardiac muscle involvement were found. Muscle histopathological features included marked muscle fibre size variation, fibre splitting, numerous internal nuclei and fatty infiltration. Frequent groups of fibres showed eosinophilic inclusions and deposits. At the ultrastructural level there were extensive myofibrillar lesions with marked Z-disc alterations. Whole exome sequencing in four individuals from one family revealed a missense mutation, g.274375, T>C; p.Cys30071Arg, in the titin gene, TTN. The mutation, which changes a highly conserved residue in the myosin binding A-band titin, was demonstrated to segregate with the disease in all three families. High density single nucleotide polymorphism arrays covering the entire genome demonstrated sharing of a 699 Mb haplotype, located in chromosome region 2q31 including TTN, indicating common ancestry of this novel and first disease-causing mutation in A-band titin associated with HMERF.
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| 67. |
- Hedberg, Carola, 1969, et al.
(författare)
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Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain
- 2014
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Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 24:5, s. 373-379
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary myopathy with early respiratory failure is a rare disease with muscle weakness and respiratory failure as early symptoms. Muscle pathology is characterized by the presence of multiple cytoplasmic bodies and other protein aggregates in muscle fibers. The disease is associated with mutations in the titin gene (TTN). All patients harbor mutations located in exon 343 in the TTN gene that codes for the fibronectin III domain 119 (FN3 119) in the 10th motif of the 11-element motif A-band super-repeat. We investigated how such disease-causing mutations affect the biochemical behavior of this titin domain. All five disease-causing amino acid changes analyzed by us (p.P30068R, p.C30071R, p.W30088R, p.W30088C and p.P30091L) resulted in impaired FN3 119 domain solubility. In contrast, amino acid changes associated with common SNPs (p.V30076I, p.R30107C and p.S30125F) did not have this effect. In silica analyses further support the notion that disease-causing mutations impair proper folding of the FN3 119 domain. The results suggest that hereditary myopathy with early respiratory failure is caused by defective protein folding. (C) 2014 Elsevier B.V. All rights reserved.
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| 68. |
- Hedberg, Carola, 1969, et al.
(författare)
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Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
- 2012
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Ingår i: Neuromuscular disorders : NMD. - : Elsevier BV. - 1873-2364 .- 0960-8966. ; 22:3, s. 244-51
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Tidskriftsartikel (refereegranskat)abstract
- We have investigated a woman and her daughter with an early onset, slowly progressive myopathy. Muscle biopsy showed in both cases severe atrophy with marked fatty replacement. Frequent fibers with internalized nuclei were present but no typical features of centronuclear myopathy. There were also many fibers with deep invaginations of the plasma membrane. The presence of necklace fibers provided clue to correct genetic diagnosis. Both patients had a novel heterozygous splice site mutation in the myotubularin gene, MTM1 (c.867+1G>T). Analysis of MTM1 cDNA revealed that the mutation resulted in aberrant splicing with variable exon skipping. The expression of normal transcripts was markedly reduced and there was reduced expression of myotubularin protein. Although the expression of the allele without the mutation was reduced we did not obtain evidence of skewed X-chromosome inactivation. Other factors than skewed X-inactivation may cause allele inactivation and manifestation of severe myopathy in heterozygous carriers of pathogenic MTM1 mutations.
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| 69. |
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| 70. |
- Houshmand, Massoud, et al.
(författare)
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Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.
- 2004
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Ingår i: Neuromuscular disorders : NMD. - : Elsevier BV. - 0960-8966. ; 14:3, s. 195-201
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Tidskriftsartikel (refereegranskat)abstract
- Large-scale heteroplasmic mtDNA rearrangements were identified in a 57-year-old woman with chronic depressive disorder, hearing-loss, diabetes mellitus and a slowly progressive encephalomyopathy. A high percentage of a 24.2 kb duplicated molecule was found in lymphocytes whereas the corresponding deletion dimer dominated in muscle. PCR and Southern blot analyses were used to identify a 7658 bp duplication/deletion fragment. The duplicated mtDNA disrupted the cytochrome oxidase subunit I and cytochrome b genes at a position where there were no direct repeats. Duplicated mtDNA was not observed in the mother and brother of the patient. Histochemical analysis of skeletal muscle demonstrated pathological accumulation of mitochondria in cytochrome c oxidase negative fibers. In situ hybridization demonstrated only deleted mtDNA in cytochrome c oxidase negative fibres. We conclude that occurrence of deleted mtDNA correlates with phenotypic expression and that the duplicated mtDNA might serve as a generator of deletions, but is not directly pathogenic.
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