Results 1 to 10 of about 2,767 (200)

Avaliação da função motora em crianças com distrofia muscular congênita com deficiência da merosina Motor function evaluation in merosin-deficient congenital muscular dystrophy children [PDF]

Arquivos de Neuro-Psiquiatria, 2005
A distrofia muscular congênita (DMC) compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas até o primeiro ano de vida. Em torno de 40% a 50% dos casos são decorrentes de deficiência primária da proteína merosina (DM), os ...
Fernanda M. Rocco, Fernanda H. Gianini Luz, Alexsander Junquera Rossato, Antônio Carlos Fernandes, Acary S.B. Oliveira, Javier Toledano Beteta, Edmar Zanoteli   +6 more
doaj   +4 more sources

Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A [PDF]

European Journal of Translational Myology, 2023
The autophagy process recycles dysfunctional cellular components and protein aggregates by sequestering them in autophagosomes directed to lysosomes for enzymatic degradation.
Mariangela Mastrapasqua, Roberta Rossi, Lucrezia De Cosmo, Annalisa Resta, Mariella Errede, Antonella Bizzoca, Stefania Zampatti, Nicoletta Resta, Emiliano Giardina, Maddalena Ruggieri, Daniela Virgintino, Tiziana Annese, Nicola Laforgia, Francesco Girolamo   +13 more
doaj   +2 more sources

Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review [PDF]

Frontiers in Neurology, 2023
The laminin α2 (LAMA2) gene pathogenic variants can lead to limb–girdle muscular dystrophy (known as LGMDR23), which is rarely reported and characterized by proximal weakness in the limbs.
Duo-Zi Wang, Bing-Hu Li, Qiong Ma, Zhou Yu, Kai Chen, Ying He, Song Tan, Song Tan, Song Tan   +8 more
doaj   +2 more sources

Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival. [PDF]

Journal of Cell Biology, 1996
Laminin (laminin-1; alpha 1-beta 1-gamma 1) is known to promote myoblast proliferation, fusion, and myotube formation. Merosin (laminin-2 and -4; alpha 2-beta 1/beta 2-gamma 1) is the predominant laminin variant in skeletal muscle basement membranes; genetic defects affecting its structure or expression are the causes of some types of congenital ...
Pierre H Vachon, Frosty Loechel, U M Wewer   +2 more
exaly   +3 more sources

Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis [PDF]

Frontiers in Neurology, 2022
BackgroundBenefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS ...
Stefanie Meyer, Silke Kaulfuß, Sabrina Zechel, Karsten Kummer, Ali Seif Amir Hosseini, Marielle Sophie Ernst, Jens Schmidt, Jens Schmidt, Jens Schmidt, Silke Pauli, Jana Zschüntzsch   +10 more
doaj   +2 more sources

A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient: a case report [PDF]

Brazilian Journal of Anesthesiology, 2023
Merosin-deficient muscular dystrophy is caused by an autosomal recessive mutation on laminin-..2 gene characterized by severe progressive muscle weakness associated with neuromuscular scoliosis and restrictive lung disease.
Jorge Pelicano Paulos, Vanessa Artilheiro, Catarina Cruz, Ana Pinto Carneiro   +3 more
doaj   +2 more sources

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant [PDF]

Frontiers in Neurology, 2023
Recessive pathogenic variants in the laminin subunit alpha 2 (LAMA2) gene cause a spectrum of disease ranging from severe congenital muscular dystrophy to later-onset limb girdle muscular dystrophy (LGMDR23).
Matthew Katz, Leigh B. Waddell, Leigh B. Waddell, Michaela Yuen, Michaela Yuen, Samantha J. Bryen, Samantha J. Bryen, Emily Oates, Fleur C. Garton, Thomas Robertson, Thomas Robertson, Robert David Henderson, Sandra T. Cooper, Sandra T. Cooper, Sandra T. Cooper, Pamela A. McCombe, Pamela A. McCombe   +16 more
doaj   +2 more sources

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients [PDF]

Frontiers in Genetics, 2023
Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2-MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene.
Van Khanh Tran, Ngoc-Lan Nguyen, Lan Ngoc Thi Tran, Phuong Thi Le, Anh Hai Tran, Tuan L. A. Pham, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Tat Thanh, Thanh Van Ta, Thanh Van Ta, Thinh Huy Tran, Thinh Huy Tran, Huy-Hoang Nguyen, Huy-Hoang Nguyen   +14 more
doaj   +2 more sources

Análise da expressão do colágeno VI na distrofia muscular congênita Analysis of the expression of collagen VI in congenital muscular dystrophy [PDF]

Arquivos de Neuro-Psiquiatria, 2005
A distrofia muscular congênita (DMC) compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas já no primeiro ano de vida.
Regina Toni Loureiro de Freitas, Edmar Zanoteli, Maria da Penha Ananias Morita, Acary Souza Bulle Oliveira   +3 more
doaj   +4 more sources

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy [PDF]

Frontiers in Genetics, 2021
Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary deficiency or a functionally inactive form of the protein merosin in muscle tissue.
P. A. Chausova, O. P. Ryzhkova, G. E. Rudenskaya, V. B. Chernykh, O. A. Shchagina, A. V. Polyakov   +5 more
doaj   +2 more sources