Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases.

doi:10.1212/wnl.43.11.2369

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Article

Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases.

Neurology - 1 Nov 1993

Griggs R C, Tawil R, Storvick D, Mendell J R, Altherr M R

Abstract excerpt

A gene for facioscapulohumeral muscular dystrophy (FSHD) has been linked to chromosome 4q35 in families with the disease. We have used recently characterized p13E-11/D4S809 probes that map near or within the FSHD gene to investigate eight sporadic cases of FSHD whose parents showed no signs of di...

Topics

Blotting, Southern
Chromosomes, Human, Pair 4
DNA
Female
Genetic Markers
Humans
Male
Muscular Dystrophies
Mutation

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