Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive loss of muscle tissue. Collagen VI-related muscular dystrophies usually display more generalized muscle involvement combined with contractures and/or hyperlaxity of distal finger joints. LGMD-like phenotype of collagenopathy has only rarely been described and as reported is usually of childhood onset. We identified a Finnish family with COL6A2-related LGMD with autosomal dominant inheritance and very late onset at 40–60 years of age. Since the mutation was previously unreported, the pathognomonic findings on muscle MRI were the decisive clue for the correct diagnosis.Peer reviewe
Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe ...
Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic disorders associated w...
International audienceBackground: Dominant and recessive autosomal pathogenic variants in the three ...
Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predomina...
DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding m...
Objective: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants ...
Introduction: Limb-girdle muscular dystrophies (LGMD) are a clinical and genetically heterogeneous ...
BACKGROUND: We describe herein the application of whole exome sequencing (WES) for the molecular gen...
We describe two Finnish siblings in whom an incidentally detected elevated creatine kinase activity ...
BACKGROUND: Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to c...
Introduction: Limb girdle muscular dystrophies are a large group of both dominantly and recessively ...
SummaryCharacterized by proximal muscle weakness and wasting, limb-girdle muscular dystrophies (LGMD...
Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular diso...
AbstractLimb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic eti...
Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe ...
Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic disorders associated w...
International audienceBackground: Dominant and recessive autosomal pathogenic variants in the three ...
Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predomina...
DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding m...
Objective: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants ...
Introduction: Limb-girdle muscular dystrophies (LGMD) are a clinical and genetically heterogeneous ...
BACKGROUND: We describe herein the application of whole exome sequencing (WES) for the molecular gen...
We describe two Finnish siblings in whom an incidentally detected elevated creatine kinase activity ...
BACKGROUND: Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to c...
Introduction: Limb girdle muscular dystrophies are a large group of both dominantly and recessively ...
SummaryCharacterized by proximal muscle weakness and wasting, limb-girdle muscular dystrophies (LGMD...
Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular diso...
AbstractLimb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic eti...
Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe ...
Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic disorders associated w...
International audienceBackground: Dominant and recessive autosomal pathogenic variants in the three ...