Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations
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چکیده
منابع مشابه
Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex
Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). Previous studies have demonstrated that loss of full-length plectin with resi...
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Plectinopathies are orphan diseases caused by PLEC gene mutations. PLEC is encoding the protein plectin, playing a role in linking cytoskeleton components in various tissues. In this study, we describe the clinical case of a 26-year-old patient with an early onset plectinopathy variant "limb-girdle muscle dystrophy type 2Q," report histopathological and ultrastructural findings in m. vastus lat...
متن کاملMild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
BACKGROUND Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation. OBJECTIVE To investigate whether mutations in POMGnT1 could be responsible for milder allelic variants of muscular dystrophy. DESIGN Screening for mutati...
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We report a patient harboring a novel homozygous mutation of c.604T>G (p.F202V) in POMT2. He showed delayed psychomotor development but acquired the ability to walk at the age of 3 years and 10 months. His brain MRI was normal. No ocular abnormalities were seen. Biopsied skeletal muscle revealed markedly decreased but still detectable glycosylated forms of alpha-dystroglycan (alpha-DG). Our res...
متن کاملPyloric Atresia
(This section is meant for residents to check their understanding regarding a particular topic) QUESTIONS 1. Discuss the epidemiology of pyloric atresia. 2. Describe the etiology of pyloric atresia. 3. What anomalies are associated with pyloric atresia? 4. Discuss the genetics of pyloric atresia. 5. How can pyloric atresia be antenatally diag-nosed? 6. What are clinical features of pyloric atre...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2019
ISSN: 1651-2057
DOI: 10.2340/00015555-3317