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| http://dx.doi.org/10.4103/0019-5049.181611 | DOI Listing |
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Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFPediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Article Synopsis
- Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is a rare genetic muscle disorder caused by mutations in the CAPN3 gene, leading to progressive muscle weakness.
- A case study of a 17-year-old boy with LGMDR1 revealed he developed a desmoplastic small round cell tumor (DSRCT), a rare and aggressive type of cancer, confirmed through molecular tests.
- Despite thorough genetic testing, no known childhood cancer predisposition genes were found, highlighting the need for more research into the potential cancer risks associated with LGMDR1.
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Front Genet
December 2024
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia.
View Article and Find Full Text PDFLimb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles. LGMD R27, linked to biallelic pathogenic variants in the gene, was recently described, and to date, only 27 cases has been published in three reports. Here, we present two siblings exhibiting a severe clinical phenotype of LGMD R27, associated with a novel homozygous frameshift variant [c.
View Article and Find Full Text PDFPhenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.
Acta Neurol Belg
November 2024
Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, G B Pant Hospital, Room No: 501, New Delhi, 110002, India.
Background: Congenital myasthenic syndrome (CMS) is phenotypically and genetically different from myasthenia gravis. CMS can present in adolescents and can be treatable. Genetic testing is helpful in diagnosis, and guides therapy, alleviating the need of muscle biopsy.
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