A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome
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A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome
Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine, and causative mutations have only been identified in Old Danish Pointing Dogs and Brahman cattle to date. Herein, we characterize a novel...
متن کاملA COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome
An autosomal recessive neuromuscular disorder characterized by skeletal muscle weakness, fatigability and variable electromyographic or muscular histopathological features has been described in the two related Sphynx and Devon Rex cat breeds (Felis catus). Collection of data from two affected Sphynx cats and their relatives pointed out a single disease candidate region on feline chromosome C2, ...
متن کاملCongenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
BACKGROUND The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT). OBJECTIVE To identify the mutations underlying CMS-EA in a Turkish multiplex family. DESIGN Direct sequencing of the CHAT gene. PATIENTS A consanguineous Turkish family with 2 siblings affected by muscular weakness and epis...
متن کاملSRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome
The catalytic subunits of acetylcholinesterase (AChE) are anchored in the basal lamina of the neuromuscular junction using a collagen-like tail subunit (ColQ) encoded by COLQ. Mutations in COLQ cause endplate AChE deficiency. An A-to-G mutation predicting p.E415G in COLQ exon 16 identified in a patient with endplate AChE deficiency causes exclusive skipping of exon 16. RNA affinity purification...
متن کاملCOLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review
Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically not part of the CMS. We report here a Saudi girl with genetically proven Collagen Like Tail Subuni...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2014
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0106425