Results 141 to 150 of about 3,944 (168)

LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy

Muscle & Nerve, 2014
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Kevelam, S.H., van Engelen, B.G.M., van Engelen, B.G.M., van Berkel, C.G., Kusters, B., Kusters, B., van der Knaap, M.S.   +6 more
openaire   +5 more sources

LAMA2-related congenital muscular dystrophy complicated by West syndrome

European Journal of Paediatric Neurology, 2015
Mutations in the LAMA2 gene cause autosomal recessive laminin α2 related congenital muscular dystrophy. In patients with partial laminin α2 deficiency the phenotype is usually milder than in those with absent protein. Apart from the typical white matter abnormalities, there is an increased risk of cerebral complications such as epilepsy and mental ...
Ana, Camacho, Noemí, Núñez, Gabriele, Dekomien, Aurelio, Hernández-Laín, Ana Martínez, de Aragón, Rogelio, Simón   +5 more
openaire   +2 more sources

Genetic profile of Brazilian patients with LAMA2 ‐related dystrophies

Clinical Genetics
Abstract LAMA2‐related dystrophies (LAMA2‐RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype–phenotype correlations in this condition remains incomplete, and reliable clinical data for clinical trial readiness is limited.
Clara Gontijo Camelo, Cristiane de Araujo Martins Moreno, Mariana da Cunha Artilheiro, Alulin Tácio Quadros Monteiro Fonseca, Juliana Gurgel Gianetti, André Vinícius Barbosa, Karina Carvalho Donis, Jonas Alex Morales Saute, André Pessoa, Hélio Van der Linden, Ana Rita Alcântara Gonçalves, Leslie Domenici Kulikowski, Fernando Kok, Edmar Zanoteli   +13 more
openaire   +2 more sources

LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy

Neurology, 2004
The authors report a girl with autosomal recessive congenital muscular dystrophy linked to chromosome 6 (MDC1A) who carries a homozygous out-of-frame deletion in exon 56 of the LAMA2 gene but has a mild phenotype. She is still ambulant at age 13 years, shows white matter abnormalities on MRI, and traces of laminin alpha2 in her muscle biopsy with one ...
PRANDINI P, BERARDINELLI A, FANIN M, MORELLO F, ZARDINI E, PICHIECCHIO A, UGGETTI C, LANZI G, ANGELINI, CORRADO, PEGORARO, ELENA   +9 more
openaire   +5 more sources

Clinical and ultrasonographic evaluation of dysphagia in patients with LAMA2-CMD

Arquivos de Neuro-Psiquiatria
Background: LAMA2-CMD is a rare autosomal recessive disease characterized by hypotonia, muscle weakness, and the inability to achieve independent gait. It imposes a considerable disease burden, including difficulty in weight gain and dysphagia. Objective: However, this disease burden has not been thoroughly assessed in the medical literature, and this ...
Clara Gontijo Camelo, Pedro Henrique Marte de Arruda Sampaio, Ana Lucila Moreira, Cristiane de Araujo Martins Moreno, Mariana Cunha Artilheiro, André Macedo Serafim da Silva, Umbertina Conti Reed, Edmar Zanoteli   +7 more
openaire   +1 more source

A novel deep intronic variant in LAMA2 identified by RNA sequencing

Neuromuscular Disorders
LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. This common form of muscular dystrophy is characterized by elevated CK >1000IU/L, dystrophic changes on muscle biopsy, complete or partial absence of merosin staining, and both central and peripheral nervous system involvement.
Djurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, Kyoko E. Yuki, Lianna G Kyriakopoulou, Vilma Navickiene, Jim Stavropoulos, Grace Yoon, James J Dowling, Hernan Gonorazky   +9 more
openaire   +2 more sources

CONGENITAL MUSCULAR DYSTROPHY: LAMA2

Neuromuscular Disorders, 2019
A. Foley, M. Leach, G. Averion, Y. Hu, P. Yun, S. Neuhaus, D. Saade, C. Arévalo, M. Fink, J. DeCoster, C. Mendoza, O. Mayer, R. Hausmann, D. Petraki, K. Cheung, C. Bönnemann   +15 more
openaire   +1 more source

Cross-sectional survey study of the natural history of LAMA2-related dystrophy

Clinical Neurology and Neurosurgery
LAMA2-related dystrophies (LAMA2-RD) are a rare group of neuromuscular disorders with a broad spectrum of phenotype severity, ranging from mild to severe. We performed a cross-sectional study of LAMA2-RD through motor function and pulmonary tests to establish the disease's natural history.Forty-four individuals with LAMA2-RD were included and evaluated
Clara Gontijo, Camelo, Mariana Cunha, Artilheiro, Tatiana Ribeiro, Fernandes, Cristiane de Araújo Martins, Moreno, Alulin Tácio Quadros Santos Monteiro, Fonseca, Umbertina Conti, Reed, Edmar, Zanoteli   +6 more
openaire   +2 more sources

VP427 The Swiss cohort of LAMA2-related muscular dystrophy patients

Neuromuscular Disorders, 2023
Enzmann, C., Klein, A., Fluss, J., Henzi, B., Lötscher, N., Jacquier, D., Ripellino, P., Stettner, G., Baumann, D., Steiner, L.   +9 more
openaire   +2 more sources

LAMA2 Retrospective Natural History Study

Case Medical Research, 2020
openaire   +1 more source