Results 21 to 30 of about 3,092 (251)

Dystroglycan is a binding protein of laminin and merosin in peripheral nerve

FEBS Letters, 1994
α‐Dystroglycan, a 156 kDa dystrophin‐associated glycoprotein, binds laminin in skeletal muscle. Here we demonstrate that α‐dystroglycan is a binding protein of laminin (A/B1/B2) and merosin (M/B1/B2) in peripheral nerve. Immunocytochemical analysis demonstrates the localization of α‐dystroglycan and merosin surrounding myelin sheath of peripheral nerve
Teruo Shimizu, Kevin P Campbell
exaly   +3 more sources

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene [PDF]

Frontiers in Pediatrics, 2023
IntroductionMutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient congenital muscular dystrophies type 1A (MDC1A) and limb girdle muscular dystrophy 23 ...
Yuqing Xu, Yuqing Xu, Linyan Zhu, Yeqing Qian, Yeqing Qian, Minyue Dong, Minyue Dong   +6 more
doaj   +2 more sources

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy [PDF]

Human Molecular Genetics, 2021
AbstractCongenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2. Currently, no cure or disease modifying therapy has been successfully developed for MDC1A.
Sarah J Smith, Lacramioara Fabian, Adeel Sheikh, Ramil Noche, Xiucheng Cui, Steven A Moore, James J Dowling   +6 more
openaire   +3 more sources

A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy. [PDF]

J Cell Mol Med
ABSTRACT Congenital muscular dystrophy (CMD) is a genetic muscle disorder characterised by muscle weakness and degeneration, either present at birth or emerging in middle age, often leading to progressive disability. MDC1A is a subtype of CMD caused by mutations in the LAMA2 gene.
Zhao M, Liu Y, Fan L, Liu Z, Deng Y, Tao L.   +5 more
europepmc   +2 more sources

<i>CRPPA</i> exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy. [PDF]

Pediatr Investig
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Luo J, Liu Y, Song D, Yang S, Fu X, Ge L, Wei C, Cui L, Fan Y, Luo H, He Y, Xu J, Shen Q, Guo Y, Kanagawa M, Toda T, Wang J, Zhang H, Xiong H.   +18 more
europepmc   +2 more sources

UDP-glucose dehydrogenase variants cause dystroglycanopathy. [PDF]

Ann Clin Transl Neurol
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Reelfs AM, Stephan CM, Czech TM, Cox MO, Joseph S, Darbro BW, Moore SA, Campbell KP, Mathews KD.   +8 more
europepmc   +2 more sources

Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for Hypomyelination. [PDF]

Mol Genet Genomic Med
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Huang S, Li Y, Xin J, Mo W, Lin X, Mai B, He J, Zhong X, Xu J.   +8 more
europepmc   +2 more sources

Epilepsy Secondary to Occipital Cobblestone Malformation in an Adult Patient with Merosin-Deficient Congenital Muscular Dystrophy Type 1A

Acta Médica Portuguesa
N/a.
Miguel Schön, Carla Bentes, Carlos Morgado, Miguel Oliveira Santos   +3 more
doaj   +3 more sources

Rigid spine syndrome: case report [PDF]

Arquivos de Neuro-Psiquiatria, 1998
We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome.
VIVIANE H. FLUMIGNAN ZÉTOLA, ROSANA HERMÍNIA SCOLA, SALMO RASKIN, DANIEL MONTE SERRAT PREVENDELLO, YLMAR CORREA NETO, LINEU CESAR WERNECK   +5 more
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source