IllnessMyopathy, tubular aggregated; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Myopathy, tubular aggregated, comprising 7 core candudate genes and altogether 15 curated genes according to the clinical signs

MP9283

Number of genes

8 Accredited laboratory test

Examined sequence length

8,2 kb (Core-/Core-canditate-Genes)
11,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ALG14	651	612866	NM_144988.4	AR
ALG2	1251	607905	NM_033087.4	AR
DPAGT1	1227	191350	NM_001382.4	AR
GFPT1	2046	138292	NM_001244710.2	AR
ORAI1	912	610277	NM_032790.3	AD
STIM1	2058	605921	NM_003156.4	AD
GMPPB	1164	615320	NM_013334.4	AR
PREPL	1998	609557	NM_001042385.2	AR

Informations about the disease

Clinical Comment

Congenital myopathy with tubular aggregates in the subsarcolemmal region; slowly progressive proximal muscle weakness predominantly lower limbs, periodic paralysis, post-exertion muscle cramps, muscle pain. Ophthalmoplegia/pupillary abnormalities. Intensity of symptoms variable

Synonyms

Alias: Myopathy, tubular aggregate
Alias: Tubular aggregate myopathy [TAM]
Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
Allelic: Congenital disorder of glycosylation, type Ii (ALG2)
Allelic: Congenital disorder of glycosylation, type Ij (DPAGT1)
Allelic: Immunodeficiency 10 (STIM1)
Allelic: Immunodeficiency 9 (ORAI1)
Allelic: Intellectual developmental disorder, epilepsy, behav. abnorm., coarse facies (ALG14)
Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14 (GMPPB)
Allelic: Myopathy, epilepsy + progressive cerebral atrophy (ALG14)
Allelic: Split-foot malformation with mesoaxial polydactyly (MAP3K20)
Allelic: Stormorken syndrome (STIM1)
Centronuclear myopathy 1 (DNM2)
Centronuclear myopathy 2 (BIN1)
Centronuclear myopathy 4 (CCDC78)
Centronuclear myopathy 5 (SPEG)
Centronuclear myopathy 6 + fiber-type disproportion (MAP3K20)
Centronuclear myopathy, AD, modifier of (MTMR14)
Lethal congenital contracture syndrome 5 (DNM2)
Muscular dystrophy-dystroglycanopathy, cong. with brain and eye anomalies, type A, 14 (GMPPB)
Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
Myasthenia, congenital, 12, with tubular aggregates (GFPT1)
Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
Myasthenic syndrome, congenital, 14, with tubular aggregates (ALG2)
Myasthenic syndrome, congenital, 15, [with]out tubular aggregates (ALG14)
Myasthenic syndrome, congenital, 22 (PREPL)
Myopathy, centronuclear, XL (MTM1)
Myopathy, tubular aggregate, 1 (STIM1)
Myopathy, tubular aggregate, 2 (ORAI1)
Myotonic dystrophy 1 (DMPK_CTG)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

G72.88

Bioinformatics and clinical interpretation

No text defined