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[A case of myofibrillary myopathy due to Bcl2-Associated Athanogene 3 (BAG3) mutation complicated by peripheral neuropathy].
- Source :
-
Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2023 Dec 19; Vol. 63 (12), pp. 836-842. Date of Electronic Publication: 2023 Nov 22. - Publication Year :
- 2023
-
Abstract
- A 19-year-old female, normal at birth, grew up without neck movement when getting up. She needed a handrail to climb stairs since the age of 10 years old, and walked slowly since the age of 16 years old. Neurological examination revealed loss of deep tendon reflexes, decreased vibratory sensation, weakness of distal muscles of the lower extremities, and weakness of mainly cervical trunk muscles suspected to be due to myopathy. Nerve conduction studies suggested axonal polyneuropathy, and needle EMG showed short duration MUP, myotonic discharge, and rimmed vacuoles on muscle biopsy. Genetic analysis revealed a previously reported pathological mutation (p.P209L, heterozygous) in Bcl2-Associated Athanogene 3 (BAG3), and a diagnosis of MFM6 was made. P209L is a poor prognosis myopathy that develops in childhood and is associated with cardiomyopathy. P209L is a solitary myopathy associated with axonal neuropathy and characterized by apex foot contracture and weak neck to trunk flexion. This disease is suspected in young-onset neuromyopathy.
- Subjects :
- Female
Infant, Newborn
Humans
Child
Adolescent
Young Adult
Adult
Apoptosis Regulatory Proteins genetics
Apoptosis Regulatory Proteins metabolism
Muscle, Skeletal pathology
Mutation
Adaptor Proteins, Signal Transducing genetics
Adaptor Proteins, Signal Transducing metabolism
Muscular Diseases pathology
Peripheral Nervous System Diseases genetics
Peripheral Nervous System Diseases pathology
Subjects
Details
- Language :
- Japanese
- ISSN :
- 1882-0654
- Volume :
- 63
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Rinsho shinkeigaku = Clinical neurology
- Publication Type :
- Academic Journal
- Accession number :
- 37989284
- Full Text :
- https://doi.org/10.5692/clinicalneurol.cn-001915