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MRI and Muscle Involvement in Patients With Mutations in GMPPB

Limb-girdle Muscular Dystrophy Clinical Trial

Official title:
MRI and Muscle Involvement in Patients With Mutations in GMPPB

Clinical Trial Summary

Limb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and pelvic girdles. LGMD is classified based on its inheritance pattern and genetic cause into more than 31 different types.

A new type - type 2T has been found. The genetic cause of type 2T is mutations in Guanosine Diphosphate (GDP)-mannose pyrophosphorylase B (GMPPB). Mutations in GMPPB can also cause Congenital muscular dystrophies (CMD). Only 41 patients with mutations in GMPPB has been reported.

In this study, the investigators examine five new cases with the LGMD phenotype. The primary aim is to examine the muscle involvement using MRI.

Clinical Trial Description

n/a

Study Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT02635321
Study type Observational
Source Rigshospitalet, Denmark
Contact
Status Completed
Phase N/A
Start date November 2015
Completion date April 2016
View Details
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