Klinische FragestellungGliedergürtel-Muskeldystrophie, X-chromosomal; Differentialdiagnose

Zusammenfassung

Kurzinformation

GP0043_KI

GP0043

Anzahl Loci

Loci-Typ	Anzahl
Gen	7

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

8,6 kb (Core-/Core-canditate-Gene)
19,7 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

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Untersuchungsmaterial

Diagnostische Hinweise

GP0043_DH

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
EMD	765	300384	NM_000117.3	XL
FHL1	843	300163	NM_001449.5	XL
LAMP2	1233	309060	NM_002294.3	XL
MTM1	1812	300415	NM_000252.3	XLR
PHKA1	3633	311870	NM_002637.4	XLR
VMA21	306	300913	NM_001017980.4	XLR
DMD	11058	300377	NM_004006.3	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

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