Muscular dystrophy and myopathy_Paediatric

Gene: B3GALNT2

Green List (high evidence)

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life (raised CK) and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan. Individuals with isolated ID have also been reported, PMID 29273094. More than 10 unrelated families reported.

Created: 19 Dec 2020, 6:04 a.m. | Last Modified: 19 Dec 2020, 6:04 a.m.

Panel Version: 0.84

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181; MONDO:0014071

Publications

• 23453667
• 33290285
• 29791932
• 29273094
• 28688748
• 28303321

Green List (high evidence)

At least 6 unrelated cases reported with muscular dystrophy
Sources: Expert Review

Created: 24 Feb 2020, 2:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies, type A, 11 MIM#615181

Publications

• 23453667