Centronuclear myopathy

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic bases of the three main forms: the X-linked recessive form or myotubular myopathy (XLMTM) with severe neonatal phenotype, caused by mutations in the MTM1 gene; the classical autosomal dominant (AD) forms with mild, moderate or severe phenotypes caused by mutations in the DNM2 gene; and an autosomal recessive (AR)  form presenting severe and moderate phenotypes caused by mutations in the BIN1 gene.

Musculoskeletal disease; Nervous system disease

(XLMTM) MTM1 [HSA:4534] [KO:K01108]
(AD) DNM2 [HSA:1785] [KO:K01528]
(AR) BIN1 [HSA:274]

PMID:20181480 (description, gene)

Romero NB

Centronuclear myopathies: a widening concept.

Neuromuscul Disord 20:223-8 (2010)

PMID:18817572 (description, gene)

Jungbluth H, Wallgren-Pettersson C, Laporte J

Centronuclear (myotubular) myopathy.

Orphanet J Rare Dis 3:26 (2008)