Faculty Collaboration Database

Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S. J Clin Neuromuscul Dis 2017 Sep;19(1):27-30

Date

08/23/2017

Pubmed ID

28827486

DOI

10.1097/CND.0000000000000173

Scopus ID

2-s2.0-85028630388 (requires institutional sign-in at Scopus site)   23 Citations

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.

Author List

Fee DB, Harmelink M, Monrad P, Pyzik E

Authors

Dominic B. Fee MD Vice Chair, Professor in the Neurology department at Medical College of Wisconsin
Matthew Harmelink MD Chief, Associate Professor in the Neurology department at Medical College of Wisconsin
Erika L. Pyzik PAC APP Mgr Hybrid in the Neurology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Child
Creatine Kinase
Electroencephalography
Family Health
Female
Humans
Magnetic Resonance Imaging
Male
Muscular Dystrophies, Limb-Girdle
Mutation
Scoliosis
Vesicular Transport Proteins