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Mutations in GMPPB Presenting with Pseudometabolic Myopathy
- Source :
- JIMD Reports ISBN: 9783662566091
- Publication Year :
- 2017
- Publisher :
- Springer Berlin Heidelberg, 2017.
-
Abstract
- Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy.Patients typically display a combined phenotype of muscular dystrophy, brain malformations, and generalized epilepsy. However, a wide spectrum of clinical severity has been described ranging from classical CMD presentation to children with mild, yet progressive LGMD with or without intellectual disability. Cardiac involvement, including a long QT interval and left ventricular dilatation, has also been described in four cases.Two missense mutations in GMPPB gene, one novel and one already reported, have been identified in a 21-year-old man presenting with elevated CK (38,650 UI/L; normal values150 UI/L) without overt muscle weakness. Major complaints included limb myalgia, exercise intolerance, and several episodes of myoglobinuria consistent with a form of metabolic myopathy. Muscle biopsy showed only minimal alterations, whereas a marked reduction of glycosylated α-DG was evident.This case further expands the phenotypic spectrum of GMPPB mutations and highlights the importance of exhaustive molecular characterization of patients with reduced glycosylation of α-DG at muscle biopsy.
- Subjects :
- 0301 basic medicine
chemistry.chemical_classification
musculoskeletal diseases
Glycosylation
Muscle biopsy
medicine.diagnostic_test
business.industry
Limb girdle
medicine.disease
Molecular biology
Article
03 medical and health sciences
chemistry.chemical_compound
030104 developmental biology
0302 clinical medicine
Enzyme
chemistry
medicine
medicine.symptom
Guanosine diphosphate mannose
Muscular dystrophy
Myopathy
business
Gene
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISBN :
- 978-3-662-56609-1
- ISBNs :
- 9783662566091
- Database :
- OpenAIRE
- Journal :
- JIMD Reports ISBN: 9783662566091
- Accession number :
- edsair.doi.dedup.....260086f146fb06a72c73e8c408c6b14c