214400.2.2

Country

Algeria

HPO Terms

Difficulty walking; Progressive distal muscular atrophy; Lumbar kyphoscoliosis; Areflexia; Functional motor deficit; Peripheral demyelination; Axonal loss

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018972.4:c.485-2A>G	2	NA	Charcot-Marie-Tooth Disease, Type 4A

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Remarks

'ALG384-II.2' in the publication, Sister of 214400.2.1

References

De Sandre-Giovannoli et al. 2003

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
214400.2.1	Algeria	Difficulty walking; Progressive distal muscular atrophy; Lumbar kyphoscoliosis; Areflexia; Functional motor deficit; Axonal loss	Male	No	Yes	'ALG384-II.1' in the publication