Results 1 to 10 of about 3,572 (228)

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   +3 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   +3 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   +3 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   +3 more sources

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants [PDF]

SAGE Open Medical Case Reports
Laminin α2-related muscular dystrophy is a rare autosomal recessive condition caused by mutations in the LAMA2 gene, with clinical presentations ranging from severe congenital forms to milder phenotypes resembling limb-girdle muscular dystrophy.
Azita Tavasoli, Shayan Eghdami, Maryam Kachuei, Saman Rouzbeh   +3 more
doaj   +3 more sources

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy [PDF]

BMC Medical Genomics
LAMA2 encodes the alpha-2 subunit of a protein called Laminin. It consists of three subunits Y; alpha, beta and gamma. Alpha2 subunit from LAMA2 gene along with beta-2 and gamma-2 forms laminin-2 protein.
Parham Nejati, Nafiseh Falsafi, Elham Alimoradi, Teymoor Khosravi, Mohana Kamari, Morteza Oladnabi, Reza Alibakhshi   +6 more
doaj   +3 more sources

Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation. [PDF]

Cureus, 2023
Congenital muscular dystrophy due to merosin deficiency is one of the most common congenital muscular dystrophies. It is characterized by a LAMA2 gene mutation and causes varied clinical symptoms depending on the type of presentation. In this case report,
Herrera Malpica WS, Ortiz-Corredor F, Sanchez Peñarete D, Muñetones Hernández PV.   +3 more
europepmc   +2 more sources

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

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A. [PDF]

J Clin Lab Anal, 2021
Merosin‐deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy.
Khorrami A, Goleij P, Karamad V, Taheri E, Shadman B, Emami P, Jahangirzadeh G, Hajazimian S, Isazadeh A, Baradaran B, Heidari M.   +10 more
europepmc   +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