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Muscular dystrophy as a cause of unilateral scapular winging.
Intern Med J
October 2024
Department of Neurology and Clinical Neurophysiology, Royal North Shore Hospital, Sydney, New South Wales, Australia.
Shoulder weakness with unilateral scapular winging is a common issue that initially presents to the general physician, sports physician or rheumatologist. Although most of these cases are neurogenic in nature, it is important to consider alternative causes for unilateral scapular winging. Muscular dystrophies can present with marked asymmetry, the most typical being facioscapulohumeral dystrophy (FSHD).
View Article and Find Full Text PDFGNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.
J Neuromuscul Dis
September 2024
Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
Introduction: GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing with preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10-20 years after onset.
View Article and Find Full Text PDFBeevor's Sign in Limb Girdle Dysferlinopathy Due to a Novel Mutation.
Neurol India
November 2023
Department of Neurology, MES Medical College, Perinthalmanna, Kerala, India.
A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report.
Front Neurol
January 2023
Department of Neurology, The Second Affiliated Hospital (Xinqiao Hospital), Army Medical University (Third Military Medical University), Chongqing, China.
Bethlem myopathy (BM) is a disease that is caused by mutations in the collagen VI genes. It is a mildly progressive disease characterized by proximal muscle weakness and contracture of the fingers, the wrist, the elbow, and the ankle. BM is an autosomal dominant inheritance that is mainly caused by dominant COL6A1, COL6A2, or COL6A3 mutations.
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