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Applying Hickam's dictum: a case of adult-onset LGMD2I muscular dystrophy and long QT syndrome

RHEUMATOLOGY ADVANCES IN PRACTICE (2023)

Inherited myopathy plus: Double-trouble from rare neuromuscular disorders

Andre Granger et al.

Summary: Inherited myopathies are rare diseases in the USA, affecting less than 200,000 people. Genetic testing has played a crucial role in diagnosing these disorders. However, clinical correlation is necessary due to the complex nature of genetic findings and the possible presence of coexisting neuromuscular disorders. This study identified patients with inherited myopathies and rare neuromuscular disorders, emphasizing the importance of combining genetic findings with clinical features.

NEUROMUSCULAR DISORDERS (2023)

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Article Clinical Neurology

Protein homeostasis in LGMDR9 (LGMD2I) - The role of ubiquitin-proteasome and autophagy-lysosomal system

Veronika Franekova et al.

Summary: Our findings suggest that autophagy and ER stress are induced in LGMDR9 muscle.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2021)

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Article Biochemistry & Molecular Biology

A Journey with LGMD: From Protein Abnormalities to Patient Impact

Dimitra G. Georganopoulou et al.

Summary: Limb-girdle muscular dystrophies (LGMD) are a group of genetic diseases characterized by weakness and wasting in the pelvic and shoulder areas. The heterogeneity of the disease is further increased by the identification of new genotypes. The unique variabilities of LGMD stem from genetic mutations that lead to protein and muscle dysfunction.

PROTEIN JOURNAL (2021)

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Article Genetics & Heredity