Alisdair McNeill Daniel Birchall Volker Straub Lev Goldfarb Peter Reilich Maggie C Walter Nicolai Schramm Hanns Lochmüller Patrick F Chinnery
10.1159/000227266
Eur Neurol
2009;62(3):161-6.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/19590214/
Cytoskeletal Proteins / genetics Distal Myopathies / genetics Distal Myopathies / pathology Muscle Proteins / genetics Muscle, Skeletal / pathology
Cytoskeletal Proteins / genetics Distal Myopathies / genetics Distal Myopathies / pathology Muscle Proteins / genetics Muscle, Skeletal / pathology Case Reports Research Support, Non-U.S. Gov't Adult Aged Connectin Female Genetic Predisposition to Disease Humans Magnetic Resonance Imaging Male Microfilament Proteins Middle Aged Point Mutation Connectin Cytoskeletal Proteins MYOT protein, human Microfilament Proteins Muscle Proteins
PMC2760969
19590214
Lower limb radiology of distal myopathy due to the S60F myotilin mutation
2009