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Article

Severe phenotype in infantile facioscapulohumeral muscular dystrophy.

Neuromuscular disorders : NMD - 1 Oct 2006

Klinge Lars, Eagle Michelle, Haggerty Irene D, Roberts Catherine E, Straub Volker, Bushby Kate M

Abstract excerpt

While much is known about the clinical course of adult FSHD, the third most common inherited muscular dystrophy, data on the "infantile phenotype" and especially on the progression of the disease in children are limited. We have followed a cohort of 7 patients with infantile FSHD for 9-25 years and here report the clinical and genetic findings in this group. Infantile FSHD is relatively rare, amounting to 4% of...

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Source

Identifiers

PMID: 16934468
DOI: 10.1016/j.nmd.2006.06.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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