Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.

Mitsuhashi, Satomi

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. [electronic resource] - Neuromuscular disorders : NMD Dec 2013 - 975-80 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1873-2364

10.1016/j.nmd.2013.08.009 doi


Adolescent
Chromosomal Proteins, Non-Histone--genetics
Cytokines--metabolism
DNA Mutational Analysis
Exome--genetics
Family Health
Humans
Male
Muscular Dystrophy, Facioscapulohumeral--genetics
Phenotype