Myopathy with mitochondrial changes presenting as respiratory failure in two brothers

Pediatric Pulmonology

Volumn 27, Issue 3, 1999, Pages 213-217

  Lemos, Amelia Bargiela ^a   Mosquera, J ^a   Mate A ^a   Sirvent, J ^a  

^a HOSPITAL JUAN CANALEJO   (Spain)

Author keywords

Interstitial lung disease; Mitochondrial myopathies; Myopathy; Respiratory failure

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; CYANOSIS; DISEASE ASSOCIATION; DISEASE COURSE; DYSPNEA; ELECTROMYOGRAPHY; EXERCISE TOLERANCE; FATIGUE; HUMAN; HYPERCAPNIA; HYPOXEMIA; KEARNS SAYRE SYNDROME; LUNG FIBROSIS; MALE; MITOCHONDRIAL MYOPATHY; PRIORITY JOURNAL; RESPIRATORY ACIDOSIS; RESPIRATORY FAILURE; SCHOOL CHILD; SKELETAL MUSCLE;

BIOPSY, NEEDLE; CHILD; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; HUMANS; LUNG DISEASES, INTERSTITIAL; MALE; MITOCHONDRIAL MYOPATHIES; NUCLEAR FAMILY; RESPIRATORY FUNCTION TESTS; RESPIRATORY INSUFFICIENCY;

EID: 0032895208     PISSN: 87556863     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1099-0496(199903)27:3<213::AID-PPUL11>3.0.CO;2-L     Document Type: Article

References (8)

1. Knudson RJ, Lebowitz MD, Holberg CJ, Burrows B. Changes in the normal maximal flow-volume curve with growth and aging. Am Rev Respir Dis 1983;127:725-734.
2. 123I) iodoamphetamine SPECT in MELAS syndrome: comparison with CT and MR imaging. J Comput Assist Tomogr 1991;15:77-82.
3. Sandhu FS, Dillon WP. MR demonstration of leukoencephalopathy associated with mitochondrial encephalomyopathy: case report. AJNR 1991;12:375-379.
4. Kendall BE. Disorders of lysosomes, peroxisomes, and mitochondria. AJNR 1992;13:621-653.
5. Cros D, Palliyath S, DiMauro S, Ramirez C, Shamsnia M, Wizer B. Respiratory failure revealing mitochondrial myopathy in adults. Chest 1992;101:824-828.
6. DiMauro S, Bonilla E, Zeviani M, Nagakawa M, De Vivo DC. Mitochondrial myopathies. Ann Neurol 1985;17:521-538.
7. Barohn RJ, Clanton T, Sahenk Z. Mendell JR. Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies. Neurology 1990;40:103-106.
8. Bresolin N, Zeviani M, Bonilla E, Miller RH, Leech RW, Shanske S, Nagakawa M, DiMauro S. Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology 1985;35:802-812.