Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

Voït, Thomas; Kutz, P; Leube, Barbara; Neuen-Jacob, Eva; Schröder, Johann Michael; Cavallotti, Daniela; Vaccario, M. L.; Schaper, Jutta; Broich, P; Cohn, Richard J.; Baethmann, Martina; Göhlich-Ratmann, G.; Scoppetta, C; Herrmann, Ralf

doi:10.1016/s0960-8966(00)00158-9

Cited by 58 publications

(45 citation statements)

References 23 publications

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“…One of these families had small type II fibres, as well as type I fibres. The presence of predominance of one fibre type over another was not commented on in three families (3,4,5). In families 1, 7 and 8, type II predominance was observed, and families 2 and 6 there was type I fibre predominance.…”

Section: Muscle Biopsymentioning

confidence: 89%

“…It would appear they are a late pathological change, as has been suggested previously. 5 Some of the variability in histopathological findings can be attributed to the muscle sampled. Foot drop is an early sign clinically, and this correlates with the tibialis anterior muscle being affected early and severely.…”

Section: Discussionmentioning

confidence: 99%

“…[2][3][4][5][6] In family 6, the muscle biopsy was taken from the proband at the age of 32 years from the vastus lateralis muscle. The NCL-SPEC1 antibody (Novocastra, Newcastle upon Tyne, UK) was used against b-spectrin, employing the indirect horseradish peroxidase technique.…”

Section: Methodsmentioning

confidence: 99%

“…The tubulofilamentous inclusions seen on electron microscopy were observed in the muscle nuclei as well. 5 Two families had occasional ''motheaten'' fibres, three families had a minor degree of fibre splitting, three had occasional ''whorled fibres'', four showed occasional ring fibres, but cores were not reported in any of the families. ''Routine'' immunohistochemistry for dystrophin domains, sarcoglycans, dysferlin, laminins, desmin, and spectrin was normal.…”

Section: Muscle Biopsymentioning

confidence: 96%

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Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

Lamont

2006

Journal of Neurology, Neurosurgery & Psychiatry

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Background: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mutations within the slow skeletal muscle fibre myosin heavy chain gene, MYH7. It is allelic with myosin storage myopathy, with the commonest form of familial hypertrophic cardiomyopathy, and with one form of dilated cardiomyopathy. However, the clinical picture of MPD1 is distinct from these three conditions. Objective: To collate and discuss the histological features reported in the muscle biopsies of MPD1 patients and to outline the clinical features. Results: The phenotype of MPD1 was consistent, with initial weakness of great toe/ankle dorsiflexion, and later development of weakness of finger extension and neck flexion. Age of onset was the only variable, being from birth up to the 20s, but progression was always very slow. The pathological features were variable. In this retrospective series, there were no pathognomonic diagnostic features, although atrophic type I fibres were found in half the families. Rimmed vacuoles are consistently seen in all other distal myopathies with the exception of Myoshi distal myopathy. However, they were found in a minority of patients with MPD1, and were not prominent when present. Immunohistochemical staining for slow and fast myosin showed co-expression of slow and fast myosin in some type I fibres, possibly indicating a switch to type II status. This may be a useful aid to diagnosis. Conclusions: The pathological findings in MPD1 are variable and appear to be affected by factors such as the specific muscle biopsied, the age of the patient at biopsy, and the duration of disease manifestations.

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Section: Muscle Biopsymentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Muscle Biopsymentioning

confidence: 96%

See 2 more Smart Citations

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

Lamont

2006

Journal of Neurology, Neurosurgery & Psychiatry

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“…Spontaneous EMG activity has been observed [2,12,17], and Mastaglia et al [12] discuss that this finding could be either due to the presence of a neurogenic component in some form of distal myopathies or to a functional denervation of muscle fibers which have undergone segmental degeneration and regeneration, so called ''myogenic denervation'' [18]. Hypomyelinated neuropathy has been demonstrated in a single patient [19].…”

Section: Discussionmentioning

confidence: 99%

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

et al. 2011

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Laing early-onset distal myopathy is a rare autosomal dominant myopathy and caused by mutations in the MYH7 gene, encoding the slow beta myosin heavy chain. We report the first molecularly verified Laing distal myopathy in a French family caused by a novel p.Glu1508del mutation in the MYH7 gene. Interestingly, we identified the identical mutation in an unrelated Norwegian family and, as a de novo mutation, in one sporadic Finnish patient. Described in detail are the clinical and electrophysiological characteristics of 5 patients from the French family. The phenotype in the Finnish patient and the Norwegian patients is largely similar. This mutation causes a benign myopathy within the range of previously reported Laing myopathy phenotype variations. Onset of weakness in the tibialis anterior (TA) muscles occurred in early childhood in all patients. Finger extensor and neck flexor weakness together with Achilles tendon retractions were other frequent findings. The independent recurrence of the identical mutation without any founder background may reflect a mutational susceptibility of this residue, in accordance with some other MYH7 mutations previously reported. De novo mutations seem to be frequent in Laing distal myopathy. This is of clinical importance since a dominant family history is missing, which may confuse differential diagnostic efforts.

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The Second Kindred With Autosomal Dominant Distal Myopathy Linked to Chromosome 14q

et al. 2003

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To our knowledge, our described family is only the second known kindred with a chromosome 14-linked MPD in whom the linkage has been unequivocally established. We did not detect signs of involvement of hand or finger extensors and neck muscles, seen in the original family with MPD1. The degree and frequency of proximal weakness seem to be more prominent than in other patients with MPD1. Haplotype analysis suggests that the gene is located between polymorphic microsatellite markers D14S283 and D14S1034 on chromosome 14q11-q13. The presence of cardiomyopathy in some affected individuals may help in the identification of candidate genes.

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Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

Cited by 58 publications

References 23 publications

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

The Second Kindred With Autosomal Dominant Distal Myopathy Linked to Chromosome 14q

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