1.
J Neurol Sci
; 401: 17-18, 2019 Jun 15.
Article
in English
| MEDLINE
| ID: mdl-31004831
Subject(s)
Alprazolam/adverse effects , Femoral Nerve/diagnostic imaging , Femoral Neuropathy/diagnostic imaging , Neural Conduction/physiology , Substance-Related Disorders/diagnostic imaging , Adolescent , Electrodiagnosis/methods , Femoral Nerve/physiopathology , Femoral Neuropathy/etiology , Femoral Neuropathy/physiopathology , Humans , Hypnotics and Sedatives/adverse effects , Male , Substance-Related Disorders/complications , Substance-Related Disorders/physiopathology
2.
J Clin Neuromuscul Dis
; 19(1): 27-30, 2017 Sep.
Article
in English
| MEDLINE
| ID: mdl-28827486
ABSTRACT
Limb-girdle muscular dystrophy 2S (LGMD2S) is an autosomal recessive condition due to mutations in the TRAPPC11 gene. It is recently described with only 9 prior reported individuals. In addition to the muscular dystrophy, some affected individuals have small head size, global developmental delay, seizures, cataracts, and liver problems. Siblings with an uncharacterized LGMD were assessed; whole-exome screening revealed compound heterozygous mutations in the TRAPPC11 gene. Their presentation helps confirm the emerging phenotype for LGMD2S.