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Summary
DUCHENNE MUSCULAR DYSTROPHY
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES MUSCULAR DYSTROPHY, CHILDHOOD PSEUDOHYPER
310200
OMIM = Online Medalian Inheritance of Men
98896
Xp21.2-p21.1
  • antibiotics
  • corticosteroids
  • deflazacort
  • digoxin
  • high-caloric nutrition
  • immunization
  • physiotherapy
  • supportive/symptomatic therapy
  • ventilatory support
rare (1:3000)
X-linked recessive
symptoms
cardiomyopathy
cardiomyopathy, dilated
hyporeflexia
hypotonia
mental retardation
muscle weakness
myopathy
onset, childhood
respiratory insufficiency
laboratory finding
Creatine kinase5000.0040000.0040.00400.00U/lserum
ECG abnormalities -
EMG abnormalities -
Literature
Eto Yet al.Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging studyJ Inherit Metab Dis284575-5832005
Rimella-Le-Huu Aet al.Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patientJ Inherit Metab Dis Suppl20S381-3862008
Kranz Cet al.CDG-Id in two siblings with partially different phenotypesAm J Med Genet A143131414-14202007
Sun Let al.Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patientAm J Med Genet A137122-262005
Bergeron Met al.The renal Fanconi syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.303691-37041995
Mitchell GAet al.HypertyrosinemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101077-11061995
Saudubray JMCharpentier CClinical phenotypes: diagnosis/algorythmsThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10327-4001995
Dancourt Jet al.A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblingsPediatr Res596835-8392006
Dubose jr TDAlpern RJRenal tubular acidosis The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.303655-36891995
Elsas LJet al.Autosomal recessive inheritance of renal glycosuriaMetabolism200968-9751971
Dubose jr TDAlpern RJRenal tubular acidosis The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.303655-36891995
Mitchell GAet al.HypertyrosinemiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101077-11061995