Results 21 to 30 of about 32,083 (123)

Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy [PDF]

Disease Models & Mechanisms, 2023
Ariany Oliveira-Santos, Marisela Dagda, Jennifer Wittmann, Robert Smalley, Dean J. Burkin   +4 more
doaj   +2 more sources

LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy [PDF]

, 2021
A 4-month-old, male Italian Greyhound with clinical signs of a neuromuscular disease was investigated. The affected dog presented with an abnormal short-strided gait, generalized muscle atrophy and poor growth since 2-months of age.
Guo, Ling T., Brocal, Josep, Vidhya Jagannathan, Victoria Indzhova, Christen, Matthias, Shelton, G, Tosso Leeb, Shelton, G. Diane, Matthias Christen, Josep Brocal, G. Diane Shelton, Jagannathan, Vidhya, Leeb, Tosso, Indzhova, Victoria, Ling T. Guo, Guo, Ling   +15 more
core   +3 more sources

Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich‐like congenital muscular dystrophy

Journal of Veterinary Internal Medicine, Volume 37, Issue 6, Page 2504-2509, November/December 2023., 2023
Abstract Two (male and female) 10‐month‐old American Staffordshire Terrier littermates presented for progressive weakness, joint contracture, and distal limb joint hyperlaxity beginning around 6 months of age. Neurological examination, serum creatine kinase activity, infectious disease titers, cerebrospinal fluid analysis, and electrodiagnostic testing
Leanne Jankelunas, Vishal D. Murthy, Annie V. Chen, Katie M. Minor, Steven G. Friedenberg, Jonah N. Cullen, Ling T. Guo, James R. Mickelson, G. Diane Shelton   +8 more
wiley   +1 more source

Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants

Molecular Genetics &Genomic Medicine, Volume 11, Issue 2, February 2023., 2023
Causative variants linked with LGMD in an Iranian population. Abstract Background Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes next‐generation ...
Hamidreza Mianesaz, Safoura Ghalamkari, Mansoor Salehi, Mahdiyeh Behnam, Majid Hosseinzadeh, Keivan Basiri, Majid Ghasemi, Maryam Sedghi, Behnaz Ansari   +8 more
wiley   +1 more source

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion

Journal of Veterinary Internal Medicine, Volume 36, Issue 1, Page 279-284, January/February 2022., 2022
Abstract A 2‐year‐old female spayed dog was presented with a chronic history of short‐strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high.
G. Diane Shelton, Katie M. Minor, Stephanie Thomovsky, Ling T. Guo, Steven G. Friedenberg, Jonah N. Cullen, James R. Mickelson   +6 more
wiley   +1 more source

Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy: From Disease to Therapeutics

Frontiers in Molecular Neuroscience, 2020
Laminin-α2-related congenital muscular dystrophy (LAMA2-CMD) is a devastating neuromuscular disease caused by mutations in the LAMA2 gene. These mutations result in the complete absence or truncated expression of the laminin-α2 chain.
Pamela Barraza-Flores, Christina R. Bates, Ariany Oliveira-Santos, Dean J. Burkin   +3 more
doaj   +1 more source

Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A)

Frontiers in Molecular Neuroscience, 2020
LAMA2-related congenital muscular dystrophy (CMD; LAMA2-MD), also referred to as merosin deficient CMD (MDC1A), is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Lacramioara Fabian, James J. Dowling, James J. Dowling, James J. Dowling   +3 more
doaj   +1 more source

Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models

Frontiers in Molecular Neuroscience, 2020
Laminin α2 gene (LAMA2)-related Congenital Muscular Dystrophy (CMD) was distinguished by a defining central nervous system (CNS) abnormality—aberrant white matter signals by MRI—when first described in the 1990s.
Andrea J. Arreguin, Andrea J. Arreguin, Holly Colognato   +2 more
doaj   +1 more source

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

BMC Medical Genomics, 2021
Background Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain.
Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai   +5 more
doaj   +1 more source

Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco

Egyptian Journal of Medical Human Genetics, 2023
Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakness, myogenic pattern, and ...
Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai   +9 more
doaj   +1 more source