ErkrankungGliedergürtel-Muskeldystrophie, X-chromosomal; Differentialdiagnose

Zusammenfassung

Kurzinformation

GP0043_KI

GP0043

Anzahl Gene

7 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

8,6 kb (Core-/Basis-Gene)
19,7 kb (Erweitertes Panel)

Analyse-Dauer

auf Anfrage

Material

Diagnostische Hinweise

GP0043_DH

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Erbgang
EMD	765	300384	XLR
FHL1	843	300163	XL
LAMP2	1233	309060	XLD
MTM1	1812	300415	XLR
PHKA1	3633	311870	XLR
VMA21	306	300913	XLR
DMD	11058	300377	XLR

Klinischer Kommentar

illness_ClinicalComment_GP0043

Synonyme

Alias formerly: Lsysosomal glycogen storage disease without acid maltase deficiency (LAMP2)
Alias: Glycogen storage disease IIb (LAMP2)
Alias: Pseudoglycogenosis II (LAMP2)
Alias: Vacuolar cardiomyopathy + myopathy, XL (LAMP2)
Allelic: Cardiomyopathy, dilated, 3B (DMD)
Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
Allelic: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
Antopol disease (LAMP2)
Becker muscular dystrophy (DMD)
Danon disease (LAMP2)
Duchenne muscular dystrophy (DMD)
Emery-Dreifuss muscular dystrophy 1, XL (EMD)
Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
Muscle glycogenosis (PHKA1)
Myopathy, XL, with excessive autophagy (VMA21)
Myotubular myopathy, XL (MTM1)
Scapuloperoneal myopathy, XLD (FHL1)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

ICD10 Code

G71.0

Kein Text hinterlegt