X-linked myotubular myopathy

ICD-10 Code G71.220

X-linked myotubular myopathy

Definition

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.

Also known as centronuclear myopathy, X-linked, MTM, myotubular myopathy, X-linked, X-linked recessive, X-linked centronuclear myopathy, X-linked myotubular myopathy, XLCNM, XLMTM — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Musculature Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculature Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Primary Anatomic Site NCIT · CC BY 4.0