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GTR Home > Conditions/Phenotypes > Distal myopathy with posterior leg and anterior hand involvement

Distal myopathy with posterior leg and anterior hand involvement

Synonyms
Myopathy, distal, 4; WILLIAMS DISTAL MYOPATHY
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis, or inflammation (summary by Duff et al., 2011). Mutation in the FLNC gene can also cause myofibrillar myopathy-5 (MFM5; 609524), which shows a different pattern of muscle involvement and different histologic changes. [from OMIM]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABP-280, ABP280A, ABPA, ABPL, ARVC15, CMH26, FLN2, MFM5, MPD4, RCM5, FLNC
    Summary: filamin C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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