Novel mitochondrial DNA mutations implicated in Noonan syndrome

Perundurai S. Dhandapany; Sakthivel Sadayappan; Ayyasamy Vanniarajan; Bose Karthikeyan; Chandran Nagaraj; Kalpana Gowrishankar; Govindan Sadasivam Selvam; Lalji Singh; Kumarasamy Thangaraj

doi:10.1016/j.ijcard.2006.07.229

Novel mitochondrial DNA mutations implicated in Noonan syndrome

Perundurai S. Dhandapany
, Sakthivel Sadayappan
, Ayyasamy Vanniarajan
, Bose Karthikeyan
, Chandran Nagaraj
, Kalpana Gowrishankar
, Govindan Sadasivam Selvam
, Lalji Singh
, Kumarasamy Thangaraj

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

We report a case of Noonan syndrome with compound mutations in a sarcomeric contractile protein gene and several novel mutations in mitochondrial genes. Our case forms the first report, which emphasizes the importance of mtDNA mutations in Noonan syndrome and extends the scope for mitochondrial related syndromes.

Original language	English (US)
Pages (from-to)	284-285
Number of pages	2
Journal	International Journal of Cardiology
Volume	120
Issue number	2
DOIs	https://doi.org/10.1016/j.ijcard.2006.07.229
State	Published - Aug 21 2007
Externally published	Yes

Keywords

Hypertrophic cardiomyopathy
Mitochondrial DNA mutations
Noonan syndrome
Sarcomeric protein mutation

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1016/j.ijcard.2006.07.229

Cite this

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title = "Novel mitochondrial DNA mutations implicated in Noonan syndrome",

abstract = "We report a case of Noonan syndrome with compound mutations in a sarcomeric contractile protein gene and several novel mutations in mitochondrial genes. Our case forms the first report, which emphasizes the importance of mtDNA mutations in Noonan syndrome and extends the scope for mitochondrial related syndromes.",

keywords = "Hypertrophic cardiomyopathy, Mitochondrial DNA mutations, Noonan syndrome, Sarcomeric protein mutation",

author = "Dhandapany, \{Perundurai S.\} and Sakthivel Sadayappan and Ayyasamy Vanniarajan and Bose Karthikeyan and Chandran Nagaraj and Kalpana Gowrishankar and Selvam, \{Govindan Sadasivam\} and Lalji Singh and Kumarasamy Thangaraj",

year = "2007",

month = aug,

day = "21",

doi = "10.1016/j.ijcard.2006.07.229",

language = "English (US)",

volume = "120",

pages = "284--285",

journal = "International Journal of Cardiology",

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publisher = "Elsevier Ireland Ltd",

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}

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T1 - Novel mitochondrial DNA mutations implicated in Noonan syndrome

AU - Dhandapany, Perundurai S.

AU - Sadayappan, Sakthivel

AU - Vanniarajan, Ayyasamy

AU - Karthikeyan, Bose

AU - Nagaraj, Chandran

AU - Gowrishankar, Kalpana

AU - Selvam, Govindan Sadasivam

AU - Singh, Lalji

AU - Thangaraj, Kumarasamy

PY - 2007/8/21

Y1 - 2007/8/21

N2 - We report a case of Noonan syndrome with compound mutations in a sarcomeric contractile protein gene and several novel mutations in mitochondrial genes. Our case forms the first report, which emphasizes the importance of mtDNA mutations in Noonan syndrome and extends the scope for mitochondrial related syndromes.

AB - We report a case of Noonan syndrome with compound mutations in a sarcomeric contractile protein gene and several novel mutations in mitochondrial genes. Our case forms the first report, which emphasizes the importance of mtDNA mutations in Noonan syndrome and extends the scope for mitochondrial related syndromes.

KW - Hypertrophic cardiomyopathy

KW - Mitochondrial DNA mutations

KW - Noonan syndrome

KW - Sarcomeric protein mutation

UR - https://www.scopus.com/pages/publications/34447274433

UR - https://www.scopus.com/pages/publications/34447274433#tab=citedBy

U2 - 10.1016/j.ijcard.2006.07.229

DO - 10.1016/j.ijcard.2006.07.229

M3 - Article

C2 - 17092585

SN - 0167-5273

VL - 120

SP - 284

EP - 285

JO - International Journal of Cardiology

JF - International Journal of Cardiology

IS - 2

ER -

Novel mitochondrial DNA mutations implicated in Noonan syndrome

Abstract

Keywords

ASJC Scopus subject areas

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