Results 121 to 130 of about 607 (153)

Management of a 25-Year-Old Female Patient With Limb-Girdle Muscular Dystrophy With Physiotherapy: A Case Report. [PDF]

Cureus
Nandanwar SP, Udhoji SP, Raghuveer R.
europepmc   +1 more source

Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy. [PDF]

BMJ Case Rep
Benn KW, Bhalala OG, Day TJ, French CR.
europepmc   +1 more source

Unveiling a Rare Coexistence: Duchenne Muscular Dystrophy with Charcot-Marie-Tooth Disease Type 1A Presentation. [PDF]

Ann Indian Acad Neurol
Madduluri B, Jabeen SA, Barathidasan G, Shaik RS, Uppin MS.   +4 more
europepmc   +1 more source

Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis. [PDF]

Front Genet
Bevilacqua JA, Al-Salti AM, Al Madani A, Alves da Fonseca A, Durmus H, Chai J, Alshehri A, Ribeiro MG, Sgobbi P, Nikitin SS, Vargas S, Furtado A, Thibault N, Araujo R, Daba N.   +14 more
europepmc   +1 more source

Microarray-based molecular diagnosis of calpainopathy

, 2003
Chen, Y., Hoffman, E. P., Bakay, M.
core  

Defects of non-membrane related molecules (Calpainopathy)

, 2001
Beckmann, J.S., Sorimachi, H.
core  

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Molecular and genetic features of calpainopathy

Genes & Cells, 2022
Calpainopathy is the most common form of limb-girdle muscular dystrophy, prevalence in the population is approximately 1 in 15,00042,700 individuals. In the Russian Federation, there is an insufficient number of studies, which researched prevalence of calpainopathy among patients with limb-girdle muscular dystrophy, but according to available data ...
L. A. Mkrtchyan, Y. S. Slesarenko, I. A. Yakovlev, S. N. Bardakov, R. V. Deev   +4 more
openaire   +1 more source

Calpainopathy presenting as foot drop in a 41 year old

Neuromuscular Disorders, 2010
Mutations in the gene encoding muscle-specific calpain 3 protease cause limb girdle muscular dystrophy type 2A. Calpainopathy is characterised by progressive symmetrical atrophy of pelvic, scapular and trunk muscles with an elevated creatine kinase. Most patients develop symptoms in childhood and lose the ability to walk by the age of 40 years.
M Sampson, Rita Barresi, S R Hammans
exaly   +4 more sources

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)

Neurological Research, 2010
Autosomal recessive limb girdle muscular dystrophies (LGMD type 2) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement and wasting of limb girdle muscles. In order to describe the peculiar clinical features of LGMD2A (calpainopathy) and LGMD2B (dysferlinopathy), the most frequent forms of LGMD in ...
Corrado Angelini, M Fanin
exaly   +3 more sources

Calpainopathy: How Broad Is the Spectrum of Clinical Variability?

Journal of Molecular Neuroscience, 2003
Five affected siblings were referred with a probable diagnosis of proximal adult-type spinal muscular atrophy (SMA) based on lower motor neuron signs (muscle weakness and atrophy, hypotony, hypoactive or absent reflexes, and fasciculations), normal or borderline serum creatine kinase levels, and a neurogenic pattern on electromyography, compatible with
Flavia De Paula, Helga Cristina Almeida da Silva, Mariz Vainzof   +2 more
exaly   +3 more sources