The investigation and management of metabolic myopathies
Metabolic myopathies (MM) are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal muscle dysfunction.
Quinlivan R +4 more
core +1 more source
The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review. [PDF]
Sadeh M, Dabby R.
europepmc +1 more source
Convergent innate immune and regulated cell-death pathways in selected myopathies. [PDF]
Yamashita M +6 more
europepmc +1 more source
<i>RYR1</i>-related diseases patient-led international research workshop: Novel perspectives, treatments and interventions. [PDF]
Yun P +12 more
europepmc +1 more source
Artificial Intelligence in Neuromuscular Diseases: Opportunities for a Data-Scarce Field. [PDF]
Ma S, Luo S, Zhong H.
europepmc +1 more source
RUNX1-Mediated Hypoxic Signaling Impairs Myogenesis and Promotes Fibrosis in Myopathies. [PDF]
Zhao L, Hou T, Zhang L, Gao F, Xing T.
europepmc +1 more source
Nutritional interventions and dietary supplements in muscle diseases: a systematic review. [PDF]
Talreja T +9 more
europepmc +1 more source
Distal Myopathies and Beyond: An Updated Overview of the Welander Distal Myopathy. [PDF]
García-Rubio A +2 more
europepmc +1 more source
FABP3, a Candidate Biomarker of Muscle Strength and Myositis Disease Activity in Patients with Idiopathic Inflammatory Myopathies. [PDF]
Szinay D +9 more
europepmc +1 more source
Lightning Strikes Twice in the Same Place: Mitochondrial Myopathy and Malignant Hyperthermia-A Case Report. [PDF]
de Melo RSES +9 more
europepmc +1 more source

