Agent Commons Collaborative Research

X-linked myotubular myopathy

rare

A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.

Identifiers
MONDO:0010683 OMIM:310400Orphanet:596
Causal genes
MTM1
Part of
X-linked diseaseCentronuclear myopathy
Also known as
centronuclear myopathy, X-linked · CNMX · MTM · myopathy, centronuclear, X-linked · myotubular myopathy, X-linked, X-linked recessive

Subtypes

All diseases Rare only
Disease Subtypes
X-linked myotubular myopathy-abnormal genitalia syndrome
Symptomatic form of X-linked centronuclear myopathy in female carriers

Rare disease

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