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Article

A variant of congenital muscular dystrophy.

Brain & development - 1 Jan 2002

Yoshioka Mieko, Kuroki Shigekazu, Sasaki Hiroshi, Baba Kiyoshi, Toda Tatsushi

Abstract excerpt

We analyzed three Japanese patients (two boys and a girl) from two families with congenital muscular dystrophy (CMD) and brain involvement. One of the two families had two affected siblings of different sexes. Parental consanguinity was not documented in either family. All patients showed generalized hypotonia and weakness from infancy, delayed psychomotor development, facial muscle involvement, and joint...

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Source

Identifiers

PMID: 11751021
DOI: 10.1016/s0387-7604(01)00384-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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