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GTR Home > Conditions/Phenotypes > Myopathy, distal, 7, adult-onset, X-linked

Myopathy, distal, 7, adult-onset, X-linked

Summary

X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. Muscle biopsy shows variable myopathic changes as well as sarcoplasmic inclusions that may represent abnormally aggregated proteins (summary by Johari et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Chisel, Csl, DFN6, DFNX4, MPD7, SMPX
    Summary: small muscle protein X-linked

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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