Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation

Neurology

Volumn 55, Issue 8, 2000, Pages 1122-1128

  Laforet P ^a   Nicolino, M ^b   Eymard, B ^a   Puech, J P ^b   Caillaud, C ^b   Poenaru, L ^b   Fardeau, M ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b INSTITUT COCHIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; MALE; MUSCLE WEAKNESS; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0034711136     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.8.1122     Document Type: Article

References (24)

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2. Characterization of the human lysosomal alpha-glucosidase gene
3. Glycogenosis type II (acid maltase deficiency)
4. The spectrum and diagnosis of acid maltase deficiency
5. Acid maltase deficiency
6. Genotype-phenotype correlation in adult-onset acid maltase deficiency
7. A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage type II (GSDII)
8. Deletion of exon 18 is a frequent mutation in glycogen storage disease type II
9. Aberrant splicing in adult onset glycogen storage disease type II (GSD II): Molecular identification of an IVS1 (-13T-G) mutation in a majority of patients and a novel IVS10 (+1GT-CT) mutation
10. The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
11. Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
12. Acid maltase deficiency in adults: Studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies
13. Acid maltase deficiency in adults. Diagnosis and management in five cases
14. Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family
15. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island
16. Primary adhalinopathy (α-sarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
17. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients
18. Respiratory failure as initial symptom of acid maltase deficiency
19. Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty
20. Diaphragm function and alveolar hypoventilation
21. Acid maltase deficiency in adults presenting as respiratory failure
22. Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis
23. Genetic defects in patients with glycogenosis type II (acid maltase deficiency)
24. Frequency of mutations for glycogen storage disease type II in different populations: The Δ525T and Δexon 18 mutations are not generally 'common' in white populations