Results 181 to 190 of about 5,189 (209)

Limb-Girdle Muscular Dystrophy Type 1B

2014
Limb-girdle muscular dystrophy type 1B is characterized by progressive limb-girdle weakness (affecting the pelvic before shoulder girdle), mild joint contractures, atrioventricular cardiac conduction disturbances, and dilated cardiomyopathy. The disease is due to mutations in the LMNA gene, encoding lamins A/C.
openaire   +1 more source

Limb–Girdle Muscular Dystrophies

2017
Limb–girdle muscular dystrophies (LGMDs) are a large group of autosomal muscular dystrophies, transmitted as dominant (LGMD 1) and recessive (LGMD 2). Presently at least 8 dominant and 21 recessive forms have been described. All share the broad denominator of limb–girdle weakness; some specific clinical features are known to correlate with the ...
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
openaire   +1 more source

Limb-Girdle Muscular Dystrophies

2014
Molecular and genetic breakthroughs continue to explode our knowledge of the limb-girdle muscular dystrophies. Despite a common, basic phenotype, the more than 25 genes underlying these genetic muscle diseases lead to substantial heterogeneity in pathogenesis and clinical course.
openaire   +1 more source

[Limb girdle muscular dystrophies].

Der Nervenarzt, 2005
Limb girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of primary myopathies involving progressive weakness and wasting of the muscles in the hip and shoulder girdles, with distal spread to the bulbar or respiratory musculature in rare cases.
openaire   +3 more sources

Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies

Physical Therapy, 2022
Meredith K James, Lindsay N Alfano, Michelle Eagle   +2 more
exaly  

Limb-girdle muscular dystrophy

2015
Wen-Chen Liang, Ichizo Nishino
openaire   +1 more source

REVERSIBLE LIMB-GIRDLE MUSCULAR DYSTROPHY

The Lancet, 1988
M.J. Steiger, P. Brown, PerSchmidt Sørensen, Troels Sørensen, KurtVirring Sørensen   +4 more
openaire   +2 more sources

Limb–Girdle Muscular Dystrophies Classification and Therapies

Journal of Clinical Medicine, 2023
Camille Bouchard, Jacques P Tremblay, Tremblay Jacques P   +2 more
exaly  

Prevalence of chronic pain in a national cohort of patients with limb-girdle muscular dystrophy: a cross-sectional study

Disability and Rehabilitation, 2022
Rikke Nicoline Stokholm, Charlotte Handberg, Lone F Knudsen   +2 more
exaly  

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Brain, 2013
Maria Jesus Melia, Juan J Vílchez, Josep Gámez   +2 more
exaly