Re: type 2 test?recessive...? part 2

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In a message dated 12/29/01 6:43:00 PM, butterflypower@... writes:

<< Another question is: Is CMT type 1 and type 2 autosomal recessive,

dominant, what? >>

These are the recessive ones:

CMT & HMSN: Demyelinating

Recessive

HMSN 3 (Dejerine-Sottas)

P0; PMP-22; EGR2; 8q23; Periaxin

CMT 4A: GDA P1; 8q21.1

Focally-folded myelin

CMT 4B: Myotubularin-related protein-2; 11q23

CMT 4B2: 11p15

P0

Juvenile glaucoma

CMT 4C: 5q23-q33

CMT 4D (Lom): NDRG1; 8q24

CMT 4E: Congenital Hypomyelinating

EGR2; 10q21

P0; 8q23

PMP-22; 17p11

CMT 4F: Periaxin; 19q13

HMSN-Russe: 10q22

Carbohydrate Deficient Glycoprotein (1a): 16p13

Cataracts & Facial dysmorphism: 18qter

Cockayne's: 5

Congenital hypomyelinating: P0, PMP-22 & EGR-2

Farber's lipogranulomatosis

Krabbe: 14q31

Metachromatic leukodystrophy: 22q13

PMP-22 point mutations

Refsum's disease: 10pter-p11.2; 7q21

HMSN + CNS: Heterogeneous

X-linked: Connexin-32

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CMT & HMSN: Axonal

Recessive

AR-CMT2A: 1q21

AR-CMT2B: 19q13.3

AR-CMT + Hoarseness: GDA P1; 8q21.1

AR-CMT + Pyramidal signs: 8q21.3

Acrodystrophy

Andermann: Corpus callosum D; 15q13

Giant axonal neuropathy: Gigaxonin; 16q24

HMSN + CNS: Heterogeneous

HMSN + Deafness

HMSN + Optic neuropathy ± Deafness

Infantile axonal + Respiratory failure

Lethal Neonatal

Neuroaxonal dystrophy

Ouvrier: Early childhood onset

X-linked

Connexin-32 (Females)

2: Xp22.2

3: Xq26