ArticleJournal of neurology2013
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.
Article in Journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.Journal of neurology · 2023Pooled it
- Novel insights into the molecular mechanisms of LGMDD2: role of TNPO3 in experimental cell and zebrafish models.Cellular and molecular life sciences : CMLS · 2025Article
- MyomiRs Expression in Limb Girdle Muscular Dystrophy.IUBMB life · 2025Review
- Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional Study.Muscles (Basel, Switzerland) · 2025Article
- Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.Brain : a journal of neurology · 2024Article
- Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.Journal of neurology · 2022Article
- Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection.Frontiers in cell and developmental biology · 2022Article
- LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism.Frontiers in neurology · 2022Review
- Inhibition of autophagy rescues muscle atrophy in a LGMDD2 Drosophila model.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.Genes · 2021Article
- LGMD. Identification, description and classification.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Article
- Novel mutation inNeurology. Genetics · 2019Article
- A new family with transportinopathy: increased clinical heterogeneity.Therapeutic advances in neurological disorders · 2019Article
- Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.Acta neuropathologica communications · 2018Article
- Exciting perspectives for Translational Myology in the Abstracts of the 2018Spring PaduaMuscleDays: Giovanni Salviati Memorial - Chapter II - Abstracts of March 15, 2018.European journal of translational myology · 2018Article
- What Can be Learned from the Time Course of Changes in Low-Frequency Stimulated Muscle?European journal of translational myology · 2017Article
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.Journal of neuromuscular diseases · 2015Article
- Genetic basis of limb-girdle muscular dystrophies: the 2014 update.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2014Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Of the seven autosomal dominant genetically distinct forms of LGMD so far described, in only four the causative gene has been identified (LGMD1A-1D). We describe clinical, histopathological and muscle MRI features of a large Italo-Spanish kindred with LGMD1F presenting proximal-limb and axial muscle weakness. We obtained complete clinical data and graded the progression of the disease in 29 patients. Muscle MRI was performed in seven patients. Three muscle biopsies from two patients were investigated. Patients with age at onset in the early teens, had a more severe phenotype with a rapid disease course; adult onset patients presented a slow course. Muscle MRI showed prominent atrophy of lower limb muscles, involving especially the vastus lateralis. Widening the patients population resulted in the identification of previously unreported features, including dysphagia, arachnodactyly and respiratory insufficiency. Muscle biopsies showed diffuse fibre atrophy, which evolved with time, chronic myopathic changes, basophilic cytoplasmic areas, autophagosomes and accumulation of myofibrillar and cytoskeletal proteins. The LGMD1F is characterized by a selective involvement of limb muscles with respiratory impairment in advanced stages, and by different degrees of clinical progression. Novel clinical features emerged from the investigation of additional patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.