{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:10:21Z","timestamp":1777857021591,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2022,1,4]]},"abstract":"<jats:p>Background and Purpose: Mutations in the GMPPB gene affect glycosylation of \u03b1-dystroglycan, leading to varied clinical phenotypes. We attempted to delineate the muscle MR imaging spectrum of GMPPB-related Congenital Myasthenic syndrome (CMS) in a single-center cohort study. Objective: To identify the distinct patterns of muscle involvement in GMPPB gene mutations. Methods: We analyzed the muscle MR images of 7 genetically proven cases of GMPPB dystroglycanopathy belonging to three families and studied the potential qualitative imaging pattern to aid in clinico -radiological diagnosis in neuromuscular practice. All individuals underwent muscle MRI (T1, T2, STIR\/PD Fat sat. sequences in 1.5 T machine) of the lower limbs. Qualitative assessment and scoring were done for muscle changes using Mercuri staging for fibro-fatty replacement on T1 sequence and Borsato score for myoedema on STIR sequence. Results: All patients were of South Indian origin and presented as slowly progressive childhood to adult-onset fatigable limb-girdle muscle weakness, elevated creatine kinase level, and positive decrement response in proximal muscles. Muscle biopsy revealed features of dystrophy. All patients demonstrated identical homozygous mutation c.1000G\u200a&gt;\u200aA in the GMPPB gene. MRI demonstrated early and severe involvement of paraspinal muscles, gluteus minimus, and relatively less severe involvement of the short head of the biceps femoris. A distinct proximo-distal gradient of affliction was identified in the glutei, vasti, tibialis anterior and peronei. Also, a postero-anterior gradient was observed in the gracilis muscle. Conclusion: Hitherto unreported, the distinctive MR imaging pattern described here, coupled with relatively slowly progressive symptoms of fatigable limb-girdle weakness, would facilitate an early diagnosis of the milder form of GMPPB- dystroglycanopathy associated with homozygous GMPPB gene mutation.<\/jats:p>","DOI":"10.3233\/jnd-200628","type":"journal-article","created":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T01:58:10Z","timestamp":1633744690000},"page":"95-109","source":"Crossref","is-referenced-by-count":6,"title":["Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation"],"prefix":"10.1177","volume":"9","author":[{"given":"Shahyan","family":"Siddiqui","sequence":"first","affiliation":[{"name":"Department of Neuroimaging and Interventional radiology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiran","family":"Polavarapu","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"},{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mainak","family":"Bardhan","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veeramani","family":"Preethish-Kumar","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aditi","family":"Joshi","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saraswati","family":"Nashi","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seena","family":"Vengalil","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanita","family":"Raju","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanushree","family":"Chawla","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shingavi","family":"Leena","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aradhana","family":"Mathur","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sushmita","family":"Nayak","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhaarini","family":"Mohan","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uzma","family":"Shamim","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chandrajit","family":"Prasad","sequence":"additional","affiliation":[{"name":"Department of Neuroimaging and Interventional radiology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Faruq","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atchayaram","family":"Nalini","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","reference":[{"key":"10.3233\/JND-200628_ref1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ajhg.2013.05.009","article-title":"Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of 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