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Subject : limb-girdle muscular dystrophy
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Academic Journal

Distal myopathy due to TCAP variants in four unrelated Chinese patients.

Subjects: FAMILIAL spastic paraplegia; CHINESE people; LIMB-girdle muscular dystrophyCHINA

  • Source: Neurogenetics; Mar2021, Vol. 22 Issue 1, p1-10, 10p

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Academic Journal

Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal.

Subjects: DUCHENNE muscular dystrophy; NEUROMUSCULAR diseases; LIMB-girdle muscular dystrophy

  • Source: Journal of Child Neurology; Jun/Jul2024, Vol. 39 Issue 7/8, p233-240, 8p

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Academic Journal

663P Screening for Pompe disease and its differential diagnoses.

Subjects: *LIMB-girdle muscular dystrophy; *AMYOTROPHIC lateral sclerosis; *MUSCLE weakness

  • Source: Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.

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Academic Journal

08INV An African perspective on muscle diseases.

Subjects: *LIMB-girdle muscular dystrophy; *INCLUSION body myositis; *NEUROMUSCULAR diseases

  • Source: Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.

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Academic Journal

Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.

Subjects: MUSCULAR dystrophy; LIMB-girdle muscular dystrophy; ARTHROGRYPOSISBRAZIL

  • Source: Neurological Sciences. Jul2022, Vol. 43 Issue 7, p4473-4481. 9p. 2 Diagrams, 1 Chart, 1 Graph.

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Academic Journal

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.

Subjects: MUSCULAR dystrophy; GENETIC disorders; MUSCLE weakness

  • Source: Biomolecules (2218-273X); Mar2024, Vol. 14 Issue 3, p256, 33p

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Academic Journal

A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene.

Subjects: GENETIC mutation; LIMB-girdle muscular dystrophy; GENETIC variation

  • Source: Frontiers in Neurology; 2023, p1-7, 7p

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Academic Journal

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Subjects: LIMB-girdle muscular dystrophy; MUSCLE diseases; DNA copy number variations

  • Source: Genes; Aug2021, Vol. 12 Issue 8, p1199, 1p

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Academic Journal

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy.

Subjects: LIMB-girdle muscular dystrophy; MUSCLE diseases; PATIENT advocacy

  • Source: Annals of Clinical & Translational Neurology; May2023, Vol. 10 Issue 5, p686-695, 10p

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Academic Journal

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.

Subjects: BECKER muscular dystrophy; MUSCULAR dystrophy; FACIOSCAPULOHUMERAL muscular dystrophy

  • Source: Genes; Jan2023, Vol. 14 Issue 1, p200, 10p

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  • 1-10 of  29 results for ""Distal Myopathies""