Phenotype variability in thirteen 16p11.2 deletion patients

Phenotype variability in patients carrying KCNJ2 mutations.

BACKGROUND Mutations of KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, cause Andersen-Tawil syndrome (ATS), a disease exhibiting ventricular arrhythmia, periodic paralysis, and dysmorphic features. However, some KCNJ2 mutation carriers lack the ATS triad and sometimes share the phenotype of catecholaminergic polymorphic ventricular tachycardia (CPVT). We investiga...

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Phenotype Variability in Patients Carrying KCNJ 2 Mutations Running title : Kimura et al . ; Phenotype variability in KCNJ 2 mutations

Hiromi Kimura, MD; Jun Zhou, PhD; Mihoko Kawamura, MD; Hideki Itoh, MD, PhD; Yuka Mizusawa, MD; Wei-Guang Ding, MD, PhD; Jie Wu, PhD; Seiko Ohno, MD, PhD; Takeru Makiyama, MD, PhD; Akashi Miyamoto, MD, PhD; Nobu Naiki, MD; Qi Wang, BS; Yu Xie, BS; Tsugutoshi Suzuki, MD, PhD; Shigeru Tateno, MD, PhD; Yoshihide Nakamura, MD, PhD; Wei-Jin Zang, PhD; Makoto Ito, MD, PhD; Hiroshi Matsuura, MD, PhD; ...

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Phenotype Variability in Patients Carrying KCNJ 2 Mutations Running title :

Hiromi Kimura, MD; Jun Zhou, PhD; Mihoko Kawamura, MD; Hideki Itoh, MD, PhD; Yuka Mizusawa, MD; Wei-Guang Ding, MD, PhD; Jie Wu, PhD; Seiko Ohno, MD, PhD; Takeru Makiyama, MD, PhD; Akashi Miyamoto, MD, PhD; Nobu Naiki, MD; Qi Wang, BS; Yu Xie, BS; Tsugutoshi Suzuki, MD, PhD; Shigeru Tateno, MD, PhD; Yoshihide Nakamura, MD, PhD; Wei-Jin Zang, PhD; Makoto Ito, MD, PhD; Hiroshi Matsuura, MD, PhD; ...

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Phenotype Variability in Patients Carrying KCNJ 2 Mutations Running

Hiromi Kimura, MD; Jun Zhou, PhD; Mihoko Kawamura, MD; Hideki Itoh, MD, PhD; Yuka Mizusawa, MD; Wei-Guang Ding, MD, PhD; Jie Wu, PhD; Seiko Ohno, MD, PhD; Takeru Makiyama, MD, PhD; Akashi Miyamoto, MD, PhD; Nobu Naiki, MD; Qi Wang, BS; Yu Xie, BS; Tsugutoshi Suzuki, MD, PhD; Shigeru Tateno, MD, PhD; Yoshihide Nakamura, MD, PhD; Wei-Jin Zang, PhD; Makoto Ito, MD, PhD; Hiroshi Matsuura, MD, PhD; ...

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Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients

Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...

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Phenotype variability in thirteen 16p11.2 deletion patients

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منابع مشابه

Phenotype variability in patients carrying KCNJ2 mutations.

Phenotype Variability in Patients Carrying KCNJ 2 Mutations Running title : Kimura et al . ; Phenotype variability in KCNJ 2 mutations

Phenotype Variability in Patients Carrying KCNJ 2 Mutations Running title :

Phenotype Variability in Patients Carrying KCNJ 2 Mutations Running

Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients

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