Distal myopathy with tubular aggregates: A new phenotype associated with multiple deletions in mitochondrial DNA? [6]

Journal of Neurology Neurosurgery and Psychiatry

Volumn 73, Issue 2, 2002, Pages 207-208

  Garrard, P ^a   Blake, J ^a   Stinton, V ^a   Hanna, M G ^a   Reilly, M M ^a   Holton, J L ^a   Landon, D N ^a   Honan, W P ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; MITOCHONDRIAL DNA; PREDNISOLONE;

AGED; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CLINICAL FEATURE; DISEASE COURSE; DISTAL MYOPATHY; GENE DELETION; GENETIC ASSOCIATION; HUMAN; LETTER; MALE; NERVE CONDUCTION; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL;

AGED; BIOPSY; CHROMOSOME DELETION; DNA, MITOCHONDRIAL; HUMANS; MALE; MICROTUBULES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MYOPATHIES, STRUCTURAL, CONGENITAL; PHENOTYPE;

EID: 0036323345     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.73.2.207     Document Type: Letter

References (8)

1. Mitochondrial encephalomyopathies
2. Tubular aggregates in skeletal muscle: Their functional significance and mechanisms of pathogenesis
3. Autosomal dominant progressive external opthalmoplegia: Distribution of multiple mitochondrial DNA deletions
4. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
5. Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy
6. Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no aphthalmoplegia
7. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family
8. Contribution of mitochondria to animal physiology: Fom homeostatic sensor to calcium signalling and cell death