Enfermedades Neuromusculares

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Cautionary note on the use of Caenorhabditis elegans to study muscle phenotypes caused by mutations in the human MYH7 gene

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

HeterozygousCAPN3missense variants causing autosomal-dominant calpainopathy in seven unrelated families

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Deoxynucleoside therapy for thymidine kinase 2 (TK2) deficient myopathy.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Rules of tissue packing involving different cell types: human muscle organization

A missense mutation in POGLUT1 causes recessive limb-girdle muscular dystrophy.

Branching enzyme deficiency: expanding the clinical spectrum.