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Report provided to the Human Fertilisation and Embryology Authority, April 2011 - page 25 / 45

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Affected gene Several

Status

Inheritance

Heteroplasmic

Usually sporadic

Several

Heteroplasmic

Usually sporadic

Several

Heteroplasmic

Usually sporadic

TRNL1

Heteroplasmic

Maternal

ND1, ND5

TRNK

Heteroplasmic

Maternal

ATP6

Heteroplasmic

Maternal

ATP6

Heteroplasmic

Maternal

TRNL1

Heteroplasmic

Maternal

Clinical

mtDNA

phenotype

mutation

Progressive

A single

myothapy,

large

cardiomyopathy,

deletion

opthalmoplegia

Opthalmoplegia

A single

large

deletion

Pancytopoenia,

A single

lactic acidosis

large

deletion

Myopathy,

3243A>G

encephalopathy,

3271T>C

lactic acidosis,

Individual

stroke-like

mutations

episodes

Myoclonic

8344A>G

epilepsy,

8356T>C

myopathy

Neuropathy,

8993T>G

ataxia, retinitis

pigmentosa

Progressive

8993T>C

brain-stem

disorder

Diabetes,

3243A>G

Annex A: Clinical disorders due to mutations in mtDNA

TABLE 1. Clinical disorders due to mutations in mtDNA

Mitochondrial DNA disorder Kearns-Sayre syndrome

CPEO

Pearson syndrome

MELAS

MERFF

NARP

MILS

MIDD

Page 25 of 45

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