Novel FHL1 mutations in fatal and benign reducing body myopathy

Neurology. 2009 Jan 27;72(4):375-6. doi: 10.1212/01.wnl.0000341311.84347.a0.

Authors

S Shalaby¹, Y K Hayashi, I Nonaka, S Noguchi, I Nishino

Affiliation

¹ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.

PMID: 19171836
DOI: 10.1212/01.wnl.0000341311.84347.a0

No abstract available

Publication types

Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

Female
Gene Deletion*
Genetic Carrier Screening*
Humans
Infant
Intracellular Signaling Peptides and Proteins / genetics*
LIM Domain Proteins
Male
Muscle Proteins / genetics*
Muscular Diseases / diagnosis
Muscular Diseases / genetics*
Muscular Diseases / mortality
Mutation, Missense*
Protein Structure, Tertiary / genetics

Substances

FHL1 protein, human
Intracellular Signaling Peptides and Proteins
LIM Domain Proteins
Muscle Proteins